Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut APLF 200558 broad.mit.edu 37 2 68729908 68729908 + Missense_Mutation SNP C C T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr2:68729908C>T ENST00000303795.4 + 3 385 c.214C>T c.(214-216)Ctc>Ttc p.L72F NM_173545.2 NP_775816.1 Q8IW19 APLF_HUMAN aprataxin and PNKP like factor 72 FHA-like. double-strand break repair|single strand break repair cytosol|nucleus 3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 25 GAAGAGTCAGCTCTTACCATT 0.303000 31 76 0 0 0.760397 0 0 FCRLB 127943 broad.mit.edu 37 1 161697075 161697075 + Missense_Mutation SNP C C A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr1:161697075C>A ENST00000367948.2 + 8 1119 c.904C>A c.(904-906)Cca>Aca p.P302T FCRLB_ENST00000367946.3_Silent_p.L253L|FCRLB_ENST00000336830.5_Missense_Mutation_p.S267Y|FCRLB_ENST00000392158.1_Missense_Mutation_p.P302T|FCRLB_ENST00000367944.3_Missense_Mutation_p.S260Y|FCRLB_ENST00000367945.1_Silent_p.L246L|FCRLB_ENST00000495397.1_3'UTR Q6BAA4 FCRLB_HUMAN Fc receptor-like B 302 endoplasmic reticulum central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1) 17 all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00634) CGCCCCAGCTCCATGGGCCGC 0.652000 11 36 0.000673444 0.00070198 0.361761 1 0 TMEM132D 121256 broad.mit.edu 37 12 130184386 130184386 + Missense_Mutation SNP T T C TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr12:130184386T>C ENST00000422113.2 - 2 1263 c.937A>G c.(937-939)Aga>Gga p.R313G NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 313 integral to membrane p.R313G(1) NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) GTGGAATTTCTGGAGATGGAA 0.502000 10 22 0 0 0.335167 0 0 HECTD1 25831 broad.mit.edu 37 14 31598317 31598317 + Silent SNP A A C TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr14:31598317A>C ENST00000399332.1 - 25 4748 c.4260T>G c.(4258-4260)gcT>gcG p.A1420A HECTD1_ENST00000553700.1_Silent_p.A1420A NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 1420 Ser-rich. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) CATGGACATCAGCTCCTGAAA 0.478000 3 126 0 0 0.150653 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971108 21971108 + Missense_Mutation SNP C C T rs11552822 TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr9:21971108C>T ENST00000579755.1 - 2 585 c.293G>A c.(292-294)cGa>cAa p.R98Q CDKN2A_ENST00000446177.1_Missense_Mutation_p.D84N|CDKN2A_ENST00000361570.3_Missense_Mutation_p.R139Q|CDKN2A_ENST00000530628.2_Missense_Mutation_p.R98Q|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D33N|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D33N|CDKN2A_ENST00000578845.2_Missense_Mutation_p.D33N|CDKN2A_ENST00000498628.2_Missense_Mutation_p.D33N|CDKN2A_ENST00000494262.1_Missense_Mutation_p.D33N|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D84N|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D84N|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000304494.5_Missense_Mutation_p.D84N P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 0 H -> P (in CMM2).|H -> Q (in CMM2). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.D84Y(11)|p.D84N(7)|p.D84fs*63(2)|p.D84H(2)|p.H83fs*2(2)|p.R139Q(2)|p.D84fs*1(1)|p.D84_F90del(1)|p.R139L(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CGGGCAGCGTCGTGCACGGGT 0.741000 D84Y(DU145_PROSTATE)|D84Y(LK2_LUNG) 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 4 5 0 0 0.184627 0 0 MAP3K6 9064 broad.mit.edu 37 1 27682581 27682581 + Nonsense_Mutation SNP G G C TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr1:27682581G>C ENST00000374040.3 - 26 3883 c.3623C>G c.(3622-3624)tCa>tGa p.S1208* MAP3K6_ENST00000493901.1_Nonsense_Mutation_p.S1216*|MAP3K6_ENST00000357582.2_Nonsense_Mutation_p.S1216* O95382 M3K6_HUMAN mitogen-activated protein kinase kinase kinase 6 1216 activation of JUN kinase activity ATP binding|magnesium ion binding|MAP kinase kinase kinase activity breast(4)|central_nervous_system(2)|lung(3)|ovary(1) 10 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) CTGGTCCGTTGAAAGAGCAGC 0.562000 14 41 0 0 0.520397 0 0 ATP5S 27109 broad.mit.edu 37 14 50792426 50792426 + Silent SNP A A G TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr14:50792426A>G ENST00000311459.7 + 5 1013 c.633A>G c.(631-633)aaA>aaG p.K211K ATP5S_ENST00000358473.1_Intron|ATP5S_ENST00000245448.6_3'UTR|ATP5S_ENST00000554438.1_3'UTR NM_001003803.2 NP_001003803.1 Q99766 ATP5S_HUMAN ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B) 211 ATP biosynthetic process mitochondrial inner membrane|proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transmembrane transporter activity breast(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)|stomach(1) 12 all_epithelial(31;0.000636)|Breast(41;0.0102) OV - Ovarian serous cystadenocarcinoma(311;0.0685) TGGAACTAAAATTACAATTGA 0.308000 28 55 0 0 0.681144 0 0 TP53 7157 broad.mit.edu 37 17 7579358 7579358 + Missense_Mutation SNP C C A rs11540654 TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr17:7579358C>A ENST00000420246.2 - 4 461 c.329G>T c.(328-330)cGt>cTt p.R110L TP53_ENST00000269305.4_Missense_Mutation_p.R110L|TP53_ENST00000455263.2_Missense_Mutation_p.R110L|TP53_ENST00000359597.4_Missense_Mutation_p.R110L|TP53_ENST00000445888.2_Missense_Mutation_p.R110L|TP53_ENST00000413465.2_Missense_Mutation_p.R110L NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 110 Interaction with HIPK1 (By similarity).|Interaction with WWOX. R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654).|R -> S (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R110L(36)|p.R110P(9)|p.0?(8)|p.G59fs*23(3)|p.R110fs*13(2)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GAAGCCCAGACGGAAACCGTA 0.612000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 16 45 0.000422831 0.000448347 0.500413 1 0 MAPKBP1 23005 broad.mit.edu 37 15 42110413 42110413 + Missense_Mutation SNP A A T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr15:42110413A>T ENST00000457542.2 + 18 2288 c.2002A>T c.(2002-2004)Atc>Ttc p.I668F MAPKBP1_ENST00000221214.6_Missense_Mutation_p.I551F|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.I668F|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.I674F|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.I507F NM_014994.2 NP_055809.2 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 1 674 p.I668F(1) breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) CCCCTCAGGGATCTACATTGC 0.572000 11 49 0 0 0.435327 0 0 PAN2 9924 broad.mit.edu 37 12 56720656 56720656 + Missense_Mutation SNP A A T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr12:56720656A>T ENST00000425394.2 - 7 1383 c.1007T>A c.(1006-1008)tTt>tAt p.F336Y PAN2_ENST00000548043.1_Missense_Mutation_p.F336Y|PAN2_ENST00000257931.5_Missense_Mutation_p.F336Y|PAN2_ENST00000440411.3_Missense_Mutation_p.F336Y NM_001127460.2 NP_001120932.1 Q504Q3 PAN2_HUMAN PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 336 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 TGACACATCAAATGTCATTAG 0.557000 32 71 0 0 0.750413 0 0 B3GALTL 145173 broad.mit.edu 37 13 31891811 31891811 + Silent SNP G G A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr13:31891811G>A ENST00000343307.4 + 13 1322 c.1173G>A c.(1171-1173)acG>acA p.T391T NM_194318.3 NP_919299.3 Q6Y288 B3GLT_HUMAN beta 1,3-galactosyltransferase-like 391 fucose metabolic process endoplasmic reticulum membrane|integral to membrane transferase activity, transferring glycosyl groups breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Lung SC(185;0.0257) all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184) GCTACATCACGGGAGGAGGAG 0.527000 15 50 0 0 0.479597 0 0 CXorf22 170063 broad.mit.edu 37 X 35993984 35993984 + Silent SNP C C A rs138251686 TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chrX:35993984C>A ENST00000297866.5 + 15 2733 c.2667C>A c.(2665-2667)ccC>ccA p.P889P NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 889 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 AATGGCAACCCGTAAACACAG 0.358000 22 38 7.87624e-14 9.054e-14 0.639603 1 0 UGT2B11 10720 broad.mit.edu 37 4 70071211 70071211 + Missense_Mutation SNP C C G TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr4:70071211C>G ENST00000446444.1 - 4 1085 c.1077G>C c.(1075-1077)caG>caC p.Q359H RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA NM_001073.1 NP_001064.1 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B11 359 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 GAAGGTCATTCTGGGGTATCC 0.373000 7 127 0 0 0.248553 0 0 FN1 2335 broad.mit.edu 37 2 216298182 216298182 + Missense_Mutation SNP C C T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr2:216298182C>T ENST00000354785.4 - 3 649 c.280G>A c.(280-282)Gaa>Aaa p.E94K FN1_ENST00000356005.4_Missense_Mutation_p.E94K|FN1_ENST00000346544.3_Missense_Mutation_p.E94K|FN1_ENST00000345488.5_Missense_Mutation_p.E94K|FN1_ENST00000336916.4_Missense_Mutation_p.E94K|FN1_ENST00000446046.1_Missense_Mutation_p.E94K|FN1_ENST00000426059.1_Missense_Mutation_p.E94K|FN1_ENST00000432072.2_Missense_Mutation_p.E94K|FN1_ENST00000443816.1_Missense_Mutation_p.E94K|FN1_ENST00000421182.1_Missense_Mutation_p.E94K|FN1_ENST00000359671.1_Missense_Mutation_p.E94K|FN1_ENST00000357867.4_Missense_Mutation_p.E94K|FN1_ENST00000357009.2_Missense_Mutation_p.E94K|FN1_ENST00000323926.6_Missense_Mutation_p.E94K P02751 FINC_HUMAN fibronectin 1 94 Fibrin- and heparin-binding 1. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAAGTCTCTTCAGCTGAGGGG 0.468000 10 32 0 0 0.361761 0 0 RSPH9 221421 broad.mit.edu 37 6 43638533 43638533 + Nonsense_Mutation SNP G G T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr6:43638533G>T ENST00000372165.4 + 6 783 c.730G>T c.(730-732)Gag>Tag p.E244* RSPH9_ENST00000372163.4_Missense_Mutation_p.W226C NM_001193341.1 NP_001180270.1 Q9H1X1 RSPH9_HUMAN radial spoke head 9 homolog (Chlamydomonas) 0 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton p.W226C(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 CAGGGTCCTGGAGCATCCAGA 0.642000 Kartagener syndrome 6 51 7.48243e-07 8.21731e-07 0.335167 1 0 MAP6 4135 broad.mit.edu 37 11 75298616 75298616 + Missense_Mutation SNP G G A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr11:75298616G>A ENST00000304771.3 - 4 2680 c.1930C>T c.(1930-1932)Cca>Tca p.P644S MAP6_ENST00000526740.1_Missense_Mutation_p.P315S|CTD-2530H12.4_ENST00000527803.1_RNA NM_033063.1 NP_149052.1 Q96JE9 MAP6_HUMAN microtubule-associated protein 6 644 Pro-rich. Golgi apparatus|microtubule|perinuclear region of cytoplasm calmodulin binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 19 Ovarian(111;0.11) GGATGCTCTGGGACCATGGGA 0.517000 44 138 0 0 0.870114 0 0 TMEM132D 121256 broad.mit.edu 37 12 129559527 129559527 + Missense_Mutation SNP G G T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr12:129559527G>T ENST00000422113.2 - 9 2519 c.2193C>A c.(2191-2193)ttC>ttA p.F731L TMEM132D_ENST00000389441.4_Missense_Mutation_p.F269L NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 731 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) CCATCAAGGAGAAGTCTTTCC 0.473000 13 35 1.61879e-10 1.82671e-10 0.411799 1 0 PLB1 151056 broad.mit.edu 37 2 28761181 28761181 + Missense_Mutation SNP C C T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr2:28761181C>T ENST00000422425.2 + 10 628 c.584C>T c.(583-585)tCa>tTa p.S195L PLB1_ENST00000327757.5_Intron NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 185 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) GTTCTCCTCTCACAGAATGGG 0.657000 3 22 0 0 0.184627 0 0 ZFP36 7538 broad.mit.edu 37 19 39898771 39898771 + Missense_Mutation SNP G G A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr19:39898771G>A ENST00000597629.1 + 2 505 c.431G>A c.(430-432)cGc>cAc p.R144H ZFP36_ENST00000594045.1_3'UTR|ZFP36_ENST00000248673.3_Missense_Mutation_p.R138H P26651 TTP_HUMAN ZFP36 ring finger protein 138 positive regulation of nuclear-transcribed mRNA poly(A) tail shortening cytosol|nucleus AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding large_intestine(1)|lung(5)|pancreas(1) 7 all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) CAGGCCAATCGCCACCCCAAA 0.612000 37 93 0 0 0.804634 0 0 GCC1 79571 broad.mit.edu 37 7 127223255 127223255 + Missense_Mutation SNP C C T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr7:127223255C>T ENST00000321407.2 - 2 1565 c.1141G>A c.(1141-1143)Gag>Aag p.E381K GCC1_ENST00000497650.1_5'UTR NM_024523.5 NP_078799.2 Q96CN9 GCC1_HUMAN GRIP and coiled-coil domain containing 1 381 Golgi membrane|plasma membrane protein binding breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 TTGGCTTTCTCGTAGGTGCCT 0.547000 32 92 0 0 0.769981 0 0 BAGE2 85319 broad.mit.edu 37 21 11039138 11039138 + RNA SNP G G A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr21:11039138G>A ENST00000470054.1 - 0 1065 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AGGACATAATGAAGTGCTTTC 0.403000 17 295 0 0 0.557998 0 0 FAT1 2195 broad.mit.edu 37 4 187518254 187518254 + Missense_Mutation SNP C C T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr4:187518254C>T ENST00000441802.2 - 25 12649 c.12440G>A c.(12439-12441)gGc>gAc p.G4147D NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 4147 EGF-like 5; calcium-binding (Potential). actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GTGATAGGAGCCGTGCGTGTT 0.587000 HNSCC(5;0.00058) 9 16 0 0 0.307466 0 0 FSCB 84075 broad.mit.edu 37 14 44974982 44974982 + Silent SNP G G A rs140508672 by1000genomes TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr14:44974982G>A ENST00000340446.4 - 1 1500 c.1209C>T c.(1207-1209)ggC>ggT p.G403G NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 403 Pro-rich. cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) CTTCAAGGGCGCCCTCAGCTG 0.517000 20 69 0 0 0.592651 0 0 LCT 3938 broad.mit.edu 37 2 136546023 136546023 + Silent SNP G G A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr2:136546023G>A ENST00000264162.2 - 17 5665 c.5655C>T c.(5653-5655)taC>taT p.Y1885Y NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 1885 carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) AAAAGAGAACGTACAAAGCTG 0.522000 31 146 0 0 0.769981 0 0 PRDM2 7799 broad.mit.edu 37 1 14106924 14106924 + Silent SNP A A G TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr1:14106924A>G ENST00000235372.7 + 8 3490 c.2634A>G c.(2632-2634)gtA>gtG p.V878V PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Silent_p.V677V|PRDM2_ENST00000311066.5_Silent_p.V878V|PRDM2_ENST00000343137.4_Silent_p.V677V|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 878 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) GTAGTGCTGTAAAGAAAAGGA 0.423000 26 68 0 0 0.706142 0 0 RB1CC1 9821 broad.mit.edu 37 8 53573780 53573780 + Missense_Mutation SNP G G A rs151174558 TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr8:53573780G>A ENST00000025008.5 - 10 1943 c.1420C>T c.(1420-1422)Cgc>Tgc p.R474C RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.R474C|RB1CC1_ENST00000539297.1_Missense_Mutation_p.R474C NM_014781.4 NP_055596.3 Q8TDY2 RBCC1_HUMAN RB1-inducible coiled-coil 1 474 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding p.R474C(1) NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 60 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) ATTACGAGGCGGAGCAAAGCT 0.378000 16 66 0 0 0.500413 0 0 FLYWCH1 84256 broad.mit.edu 37 16 2983757 2983757 + Silent SNP C C T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr16:2983757C>T ENST00000399667.2 + 6 1653 c.1290C>T c.(1288-1290)ttC>ttT p.F430F FLYWCH1_ENST00000253928.9_Silent_p.F430F|FLYWCH1_ENST00000416288.2_Silent_p.F429F Q4VC44 FWCH1_HUMAN FLYWCH-type zinc finger 1 430 nucleus DNA binding|metal ion binding kidney(1)|lung(3) 4 GGGGCAGCTTCCTGGTGTACG 0.682000 7 9 0 0 0.278610 0 0 TP53 7157 broad.mit.edu 37 17 7578190 7578190 + Missense_Mutation SNP T T C rs121912666 TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr17:7578190T>C ENST00000420246.2 - 6 791 c.659A>G c.(658-660)tAt>tGt p.Y220C TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 220 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AGGCGGCTCATAGGGCACCAC 0.557000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 8 15 0 0 0.335167 0 0 OR4A15 81328 broad.mit.edu 37 11 55135388 55135388 + Missense_Mutation SNP T T A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr11:55135388T>A ENST00000314706.3 + 1 29 c.29T>A c.(28-30)tTt>tAt p.F10Y NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 10 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 AATCTCAAATTTATCACTGAC 0.408000 7 43 0 0 0.278610 0 0 GABRA4 2557 broad.mit.edu 37 4 46930431 46930431 + Silent SNP G G A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr4:46930431G>A ENST00000264318.3 - 9 2458 c.1476C>T c.(1474-1476)acC>acT p.T492T NM_000809.3|NM_001204266.1|NM_001204267.1 NP_000800.2|NP_001191195.1|NP_001191196.1 P48169 GBRA4_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 4 492 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TAGCCCCTATGGTATTAACTG 0.473000 16 77 0 0 0.520397 0 0 ADAM29 11086 broad.mit.edu 37 4 175897355 175897355 + Missense_Mutation SNP G G T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr4:175897355G>T ENST00000359240.3 + 5 1349 c.679G>T c.(679-681)Gtt>Ttt p.V227F ADAM29_ENST00000404450.4_Missense_Mutation_p.V227F|ADAM29_ENST00000514159.1_Missense_Mutation_p.V227F|ADAM29_ENST00000445694.1_Missense_Mutation_p.V227F NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 227 Peptidase M12B. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) GGATCTATATGTTATTGTTAA 0.338000 23 42 1.10513e-12 1.25862e-12 0.624587 1 0 SMOC1 64093 broad.mit.edu 37 14 70490018 70490018 + Missense_Mutation SNP G G A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr14:70490018G>A ENST00000381280.4 + 11 1398 c.1145G>A c.(1144-1146)cGg>cAg p.R382Q SMOC1_ENST00000361956.3_Missense_Mutation_p.R382Q NM_001034852.2|NM_022137.5 NP_001030024.1|NP_071420.1 Q9H4F8 SMOC1_HUMAN SPARC related modular calcium binding 1 382 EF-hand 1. cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction basement membrane calcium ion binding p.R382Q(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028) ATTAACAAGCGGGAGATGAAG 0.542000 20 61 0 0 0.592651 0 0 KCNB1 3745 broad.mit.edu 37 20 47991218 47991218 + Silent SNP G G A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr20:47991218G>A ENST00000371741.4 - 2 1045 c.879C>T c.(877-879)cgC>cgT p.R293R NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 293 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GGACCACGCGGCGGACATTCT 0.537000 20 34 0 0 0.592651 0 0 TIGD3 220359 broad.mit.edu 37 11 65123651 65123651 + Silent SNP G G A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr11:65123651G>A ENST00000309880.5 + 2 579 c.372G>A c.(370-372)ctG>ctA p.L124L NM_145719.2 NP_663771.1 Q6B0B8 TIGD3_HUMAN tigger transposable element derived 3 124 HTH CENPB-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2) 17 TCGGCTGGCTGGTCCGCTGGA 0.662000 11 42 0 0 0.411799 0 0 NELL2 4753 broad.mit.edu 37 12 45170851 45170851 + Missense_Mutation SNP C C G TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr12:45170851C>G ENST00000429094.2 - 7 1240 c.736G>C c.(736-738)Gat>Cat p.D246H NELL2_ENST00000437801.2_Missense_Mutation_p.D296H|NELL2_ENST00000551601.1_Missense_Mutation_p.D245H|NELL2_ENST00000549027.1_Missense_Mutation_p.D245H|NELL2_ENST00000333837.4_Missense_Mutation_p.D269H|NELL2_ENST00000395487.2_Missense_Mutation_p.D245H|NELL2_ENST00000452445.2_Missense_Mutation_p.D246H NM_001145108.1 NP_001138580.1 Q99435 NELL2_HUMAN NEL-like 2 (chicken) 246 TSP N-terminal. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity p.D246H(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) GCTAAAATATCCTGTAGCTCC 0.378000 12 49 0 0 0.387290 0 0 RAB1B 81876 broad.mit.edu 37 11 66043605 66043605 + Nonsense_Mutation SNP G G T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr11:66043605G>T ENST00000311481.6 + 6 649 c.502G>T c.(502-504)Gaa>Taa p.E168* RAB1B_ENST00000527397.1_Nonsense_Mutation_p.E136*|RP11-867G23.3_ENST00000501708.1_lincRNA NM_030981.2 NP_112243.1 Q9H0U4 RAB1B_HUMAN RAB1B, member RAS oncogene family 168 protein transport|small GTPase mediated signal transduction Golgi apparatus|membrane GTP binding|protein binding large_intestine(2)|lung(1)|ovary(1)|prostate(1) 5 CATGGCTGCTGAAATCAAAAA 0.597000 5 22 0.184627 0.186141 0.184627 1 0 FAM161B 145483 broad.mit.edu 37 14 74413239 74413239 + Missense_Mutation SNP G G A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr14:74413239G>A ENST00000286544.3 - 2 511 c.313C>T c.(313-315)Ccc>Tcc p.P105S FAM161B_ENST00000534936.1_Missense_Mutation_p.P42S NM_152445.2 NP_689658.2 family with sequence similarity 161, member B breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2) 21 CTGGCCCTGGGCAAAACCAGC 0.507000 4 139 0 0 0.150653 0 0 DHX34 9704 broad.mit.edu 37 19 47856424 47856424 + Missense_Mutation SNP A A G TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr19:47856424A>G ENST00000328771.4 + 2 486 c.137A>G c.(136-138)gAa>gGa p.E46G NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 46 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) TTCTTCCGTGAAGAGGATTAC 0.537000 17 40 0 0 0.575678 0 0 HRNR 388697 broad.mit.edu 37 1 152192821 152192821 + Missense_Mutation SNP C C G TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr1:152192821C>G ENST00000368801.2 - 3 1359 c.1284G>C c.(1282-1284)caG>caC p.Q428H FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 428 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CAGACCCACGCTGGCCGTGGC 0.612000 18 44 0 0 0.575678 0 0 DOK6 220164 broad.mit.edu 37 18 67406313 67406313 + Missense_Mutation SNP A A T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr18:67406313A>T ENST00000382713.5 + 6 902 c.712A>T c.(712-714)Atg>Ttg p.M238L DOK6_ENST00000584435.1_3'UTR NM_152721.5 NP_689934.2 Q6PKX4 DOK6_HUMAN docking protein 6 238 M -> V (in Ref. 5; BAB71577). insulin receptor binding p.M238L(1) central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 20 Colorectal(73;0.083)|Esophageal squamous(42;0.131) TGAAAGATTAATGCTAGAAAT 0.443000 34 35 0 0 0.796494 0 0 HSPA1L 3305 broad.mit.edu 37 6 31778484 31778484 + Silent SNP G G A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr6:31778484G>A ENST00000375654.4 - 2 1455 c.1266C>T c.(1264-1266)atC>atT p.I422I HSPA1L_ENST00000417199.3_Silent_p.I422I NM_005527.3 NP_005518.3 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 422 response to unfolded protein ATP binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 GCTTGGTGGGGATGGTGGAGT 0.597000 23 68 0 0 0.608945 0 0 EPDR1 54749 broad.mit.edu 37 7 37988572 37988572 + Missense_Mutation SNP G G A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr7:37988572G>A ENST00000199448.4 + 2 779 c.400G>A c.(400-402)Gaa>Aaa p.E134K EPDR1_ENST00000476620.1_Missense_Mutation_p.E32K|EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000559325.1_Missense_Mutation_p.E254K|EPDR1_ENST00000425345.1_Missense_Mutation_p.E73K NM_017549.4 NP_060019.2 Q9UM22 EPDR1_HUMAN ependymin related 1 134 cell-matrix adhesion extracellular region calcium ion binding p.E254K(1) breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 CTCCACCTTTGAAGACCAGTA 0.512000 15 26 0 0 0.479597 0 0 SIX2 10736 broad.mit.edu 37 2 45233324 45233324 + Silent SNP C C T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr2:45233324C>T ENST00000303077.6 - 2 1180 c.861G>A c.(859-861)gtG>gtA p.V287V NM_016932.4 NP_058628.3 Q9NPC8 SIX2_HUMAN SIX homeobox 2 287 nucleus sequence-specific DNA binding transcription factor activity endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 22 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) AGCCCAGGTCCACGAGGTTGG 0.642000 13 56 0 0 0.435327 0 0 FKBP8 23770 broad.mit.edu 37 19 18649084 18649084 + Silent SNP G G A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr19:18649084G>A ENST00000597960.2 - 5 834 c.714C>T c.(712-714)ttC>ttT p.F238F FKBP8_ENST00000453489.2_Silent_p.F266F|FKBP8_ENST00000222308.3_Silent_p.F238F|FKBP8_ENST00000544835.2_Intron|FKBP8_ENST00000596558.1_Silent_p.F237F Q14318 FKBP8_HUMAN FK506 binding protein 8, 38kDa 237 apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding integral to endoplasmic reticulum membrane|mitochondrial membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1) 15 CGGCCAGGACGAAGTCCGCCC 0.667000 5 68 0 0 0.217242 0 0 WASF1 8936 broad.mit.edu 37 6 110423257 110423257 + Silent SNP T T G TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr6:110423257T>G ENST00000392589.1 - 10 1892 c.1056A>C c.(1054-1056)gtA>gtC p.V352V WASF1_ENST00000392587.2_Silent_p.V352V|WASF1_ENST00000392588.1_Silent_p.V352V|WASF1_ENST00000359451.2_Silent_p.V352V|WASF1_ENST00000392586.1_Silent_p.V352V NM_003931.2 NP_003922.1 Q92558 WASF1_HUMAN WAS protein family, member 1 352 Poly-Pro. actin filament polymerization|cellular component movement actin cytoskeleton actin binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687) GTGGGGGAGGTACTGGAGGGG 0.572000 8 33 0 0 0.500413 0 0 GPR179 440435 broad.mit.edu 37 17 36485397 36485397 + Missense_Mutation SNP C C A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr17:36485397C>A ENST00000342292.4 - 11 4075 c.4055G>T c.(4054-4056)aGt>aTt p.S1352I NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 1352 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) GGCCTCCACACTGTCCCCCGC 0.627000 10 44 1.58986e-06 1.73056e-06 0.361761 1 0 ARF4 378 broad.mit.edu 37 3 57569702 57569702 + Missense_Mutation SNP T T C TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr3:57569702T>C ENST00000303436.6 - 3 448 c.181A>G c.(181-183)Att>Gtt p.I61V ARF4_ENST00000493378.1_5'UTR|ARF4_ENST00000496292.1_Missense_Mutation_p.I34V|ARF4_ENST00000489843.1_Intron NM_001660.3 NP_001651.1 P18085 ARF4_HUMAN ADP-ribosylation factor 4 61 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport Golgi apparatus GTP binding|GTPase activity p.I61V(1) large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 7 KIRC - Kidney renal clear cell carcinoma(284;0.0449)|Kidney(284;0.0561) GTGAAACAAATGTTCTTATAT 0.353000 26 35 0 0 0.729181 0 0 GCM2 9247 broad.mit.edu 37 6 10874807 10874807 + Silent SNP G G A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr6:10874807G>A ENST00000379491.4 - 5 1089 c.942C>T c.(940-942)gtC>gtT p.V314V RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron NM_004752.3 NP_004743.1 O75603 GCM2_HUMAN glial cells missing homolog 2 (Drosophila) 314 cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 30 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) TGTATGAATTGACATTACATT 0.428000 52 131 0 0 0.870114 0 0 PRDM11 56981 broad.mit.edu 37 11 45246383 45246383 + Missense_Mutation SNP C C T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr11:45246383C>T ENST00000263765.4 + 8 1709 c.1460C>T c.(1459-1461)tCg>tTg p.S487L PRDM11_ENST00000528980.1_Intron|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000530656.1_Missense_Mutation_p.S487L|PRDM11_ENST00000424263.2_Missense_Mutation_p.S453L Q9NQV5 PRD11_HUMAN PR domain containing 11 487 p.S487L(1) endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 26 CCAGAGTTCTCGGACCCTGCA 0.542000 30 68 0 0 0.740014 0 0 ETV1 2115 broad.mit.edu 37 7 13935510 13935510 + Missense_Mutation SNP T T C TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr7:13935510T>C ENST00000343495.5 - 13 2099 c.1361A>G c.(1360-1362)aAc>aGc p.N454S ETV1_ENST00000405218.2_Missense_Mutation_p.N472S|ETV1_ENST00000403685.1_Missense_Mutation_p.N454S|ETV1_ENST00000399357.3_Missense_Mutation_p.N369S|ETV1_ENST00000405358.4_Missense_Mutation_p.N486S|ETV1_ENST00000403527.1_Missense_Mutation_p.N432S|ETV1_ENST00000405192.2_Missense_Mutation_p.N449S|ETV1_ENST00000430479.1_Missense_Mutation_p.N472S|ETV1_ENST00000242066.5_Missense_Mutation_p.N454S|ETV1_ENST00000420159.2_Missense_Mutation_p.N414S P50549 ETV1_HUMAN ets variant 1 472 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 GTAGCCTTCGTTGTAGGGGTG 0.483000 T """EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3""" """Ewing sarcoma, prostate""" 6 20 0 0 0.248553 0 0 PLEC 5339 broad.mit.edu 37 8 144993862 144993862 + Missense_Mutation SNP C C T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr8:144993862C>T ENST00000322810.4 - 32 10707 c.10538G>A c.(10537-10539)cGc>cAc p.R3513H PLEC_ENST00000357649.2_Missense_Mutation_p.R3380H|PLEC_ENST00000436759.2_Missense_Mutation_p.R3403H|PLEC_ENST00000345136.3_Missense_Mutation_p.R3376H|PLEC_ENST00000527096.1_Missense_Mutation_p.R3399H|PLEC_ENST00000398774.2_Missense_Mutation_p.R3344H|PLEC_ENST00000354589.3_Missense_Mutation_p.R3376H|PLEC_ENST00000354958.2_Missense_Mutation_p.R3354H|PLEC_ENST00000356346.3_Missense_Mutation_p.R3362H NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3513 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CAGGCCCCGGCGCATGGCCTC 0.687000 12 27 0 0 0.457914 0 0 EPHA10 284656 broad.mit.edu 37 1 38227606 38227606 + Silent SNP G G A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr1:38227606G>A ENST00000373048.4 - 3 320 c.321C>T c.(319-321)ttC>ttT p.F107F EPHA10_ENST00000319637.6_Silent_p.F107F|EPHA10_ENST00000427468.2_Silent_p.F107F NM_001099439.1 NP_001092909.1 Q5JZY3 EPHAA_HUMAN EPH receptor A10 107 extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CACGGAGTGTGAACTGCAGTT 0.622000 41 101 0 0 0.859065 0 0 CDS1 1040 broad.mit.edu 37 4 85566477 85566477 + Splice_Site SNP A A T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr4:85566477A>T ENST00000295887.5 + 12 1678 c.1256_splice c.e12+1 p.R419_splice NM_001263.3 NP_001254.2 Q92903 CDS1_HUMAN CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 419 signal transduction|visual perception endoplasmic reticulum membrane|integral to membrane diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1) 20 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.00101) AAGTTTTATAAGGTACTTTTA 0.328000 29 30 0 0 0.706142 0 0 CDYL 9425 broad.mit.edu 37 6 4935984 4935984 + Silent SNP G G A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr6:4935984G>A ENST00000328908.5 + 5 1220 c.1089G>A c.(1087-1089)gaG>gaA p.E363E CDYL_ENST00000472453.1_3'UTR|CDYL_ENST00000343762.5_Silent_p.E177E|CDYL_ENST00000449732.2_Silent_p.E177E|CDYL_ENST00000397588.3_Silent_p.E309E Q9Y232 CDYL1_HUMAN chromodomain protein, Y-like 363 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus histone acetyltransferase activity breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1) 30 Ovarian(93;0.11) all_hematologic(90;0.0901)|Lung NSC(90;0.244) OV - Ovarian serous cystadenocarcinoma(45;0.182) AGTCCTCAGAGAATAACTCAC 0.532000 23 70 0 0 0.667858 0 0 STAB1 23166 broad.mit.edu 37 3 52553341 52553341 + Missense_Mutation SNP G G A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr3:52553341G>A ENST00000321725.6 + 49 5172 c.5096G>A c.(5095-5097)gGc>gAc p.G1699D NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 1699 FAS1 5. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity p.G1699D(1) breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) GCCGTGAACGGCATCCTGCAC 0.642000 63 76 0 0 0.870114 0 0 HLA-A 3105 broad.mit.edu 37 6 29910349 29910349 + Nonsense_Mutation SNP C C T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr6:29910349C>T ENST00000396634.1 + 3 360 c.19C>T c.(19-21)Cga>Tga p.R7* HLA-A_ENST00000376802.2_Nonsense_Mutation_p.R7*|HLA-A_ENST00000376809.5_Nonsense_Mutation_p.R7*|HLA-A_ENST00000376806.5_Nonsense_Mutation_p.R7* P30443 1A01_HUMAN major histocompatibility complex, class I, A 7 antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 CATGGCGCCCCGAACCCTCCT 0.677000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 11 33 0 0 0.435327 0 0 TOR4A 54863 broad.mit.edu 37 9 140173372 140173372 + Silent SNP C C T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr9:140173372C>T ENST00000357503.2 + 2 427 c.231C>T c.(229-231)ttC>ttT p.F77F NM_017723.2 NP_060193.2 Q9NXH8 CI167_HUMAN torsin family 4, member A 77 chaperone mediated protein folding requiring cofactor integral to membrane ATP binding|nucleoside-triphosphatase activity CAAAGTTCTTCACCTTCGACA 0.736000 4 4 0 0 0.184627 0 0 SYPL2 284612 broad.mit.edu 37 1 110022065 110022065 + Silent SNP G G C TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr1:110022065G>C ENST00000369872.3 + 6 930 c.714G>C c.(712-714)ccG>ccC p.P238P SYPL2_ENST00000401021.3_Silent_p.P174P NM_001040709.1 NP_001035799.1 Q5VXT5 SYPL2_HUMAN synaptophysin-like 2 238 MARVEL. integral to membrane|synaptic vesicle transporter activity breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 16 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231) AGGAGACCCCGTGGCATGGAc 0.582000 22 51 0 0 0.624587 0 0 ATG2A 23130 broad.mit.edu 37 11 64665596 64665596 + Missense_Mutation SNP C C T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr11:64665596C>T ENST00000421419.2 - 34 4940 c.4826G>A c.(4825-4827)gGc>gAc p.G1609D ATG2A_ENST00000377264.3_Missense_Mutation_p.G1607D Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1607 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 GGGGTTGATGCCGGCCACCAG 0.627000 OREG0004029 type=REGULATORY REGION|Gene=BC033850|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 4 143 0 0 0.150653 0 0 PPP1R12C 54776 broad.mit.edu 37 19 55605735 55605735 + Missense_Mutation SNP C C T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr19:55605735C>T ENST00000263433.3 - 13 1676 c.1661G>A c.(1660-1662)cGc>cAc p.R554H PPP1R12C_ENST00000435544.2_Missense_Mutation_p.R480H|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.R554H NM_001271618.1|NM_017607.2 NP_001258547.1|NP_060077.1 Q9BZL4 PP12C_HUMAN protein phosphatase 1, regulatory subunit 12C 554 cytoplasm central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 22 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0449) CCGAGACTGGCGCATGAGACG 0.642000 12 50 0 0 0.500413 0 0 EPPK1 83481 broad.mit.edu 37 8 144944533 144944533 + Silent SNP C C T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr8:144944533C>T ENST00000525985.1 - 2 2960 c.2889G>A c.(2887-2889)ctG>ctA p.L963L P58107 EPIPL_HUMAN epiplakin 1 963 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GGGCCTCCAGCAGGGCCAGGG 0.716000 3 12 0 0 0.115264 0 0 SART1 9092 broad.mit.edu 37 11 65735028 65735028 + Missense_Mutation SNP G G A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr11:65735028G>A ENST00000312397.5 + 11 1492 c.1400G>A c.(1399-1401)cGa>cAa p.R467Q NM_005146.4 NP_005137.1 O43290 SNUT1_HUMAN squamous cell carcinoma antigen recognized by T cells 467 cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly Cajal body|catalytic step 2 spliceosome|cytosol endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 GACGACACCCGAGTGGAGAAC 0.682000 10 20 0 0 0.335167 0 0 ELMO1 9844 broad.mit.edu 37 7 37264524 37264524 + Nonsense_Mutation SNP G G A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr7:37264524G>A ENST00000310758.4 - 9 1308 c.661C>T c.(661-663)Cag>Tag p.Q221* ELMO1_ENST00000448602.1_Nonsense_Mutation_p.Q221*|ELMO1_ENST00000442504.1_Nonsense_Mutation_p.Q221* NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 221 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding p.Q221*(1) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 GTGATCTCCTGCGCCACTTTC 0.532000 13 29 0 0 0.457914 0 0 TRMT13 54482 broad.mit.edu 37 1 100598746 100598746 + Missense_Mutation SNP C C A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr1:100598746C>A ENST00000370141.2 + 1 28 c.22C>A c.(22-24)Ccg>Acg p.P8T TRMT13_ENST00000370143.1_Missense_Mutation_p.P8T NM_019083.2 NP_061956.2 tRNA methyltransferase 13 homolog (S. cerevisiae) CGCGACGTCGCCGCACGCGCC 0.552000 8 33 0.000274275 0.000293355 0.307466 1 0 DCC 1630 broad.mit.edu 37 18 50942511 50942511 + Missense_Mutation SNP A A C TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr18:50942511A>C ENST00000442544.2 + 21 3764 c.3148A>C c.(3148-3150)Atg>Ctg p.M1050L DCC_ENST00000581580.1_Missense_Mutation_p.M685L|DCC_ENST00000412726.1_Missense_Mutation_p.M878L NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 1050 apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane p.M1050L(1) NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CCCTGACAAAATGGCTAATGA 0.378000 10 10 0 0 0.411799 0 0 BRINP2 57795 broad.mit.edu 37 1 177249883 177249883 + Missense_Mutation SNP G G A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr1:177249883G>A ENST00000361539.4 + 8 1883 c.1571G>A c.(1570-1572)cGc>cAc p.R524H FAM5B_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 524 extracellular region p.R524H(1) breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 CAGGATAGCCGCATTGAGGTA 0.567000 13 22 0 0 0.457914 0 0 ARID2 196528 broad.mit.edu 37 12 46244616 46244616 + Nonsense_Mutation SNP C C T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr12:46244616C>T ENST00000334344.6 + 15 2882 c.2710C>T c.(2710-2712)Cag>Tag p.Q904* ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q514*|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q755* NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 904 Gln-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.Q904*(1) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TCTCCCTTCTCAGCAAGTTTC 0.483000 """N, S, F""" hepatocellular carcinoma 16 63 0 0 0.479597 0 0 MOV10 4343 broad.mit.edu 37 1 113240920 113240920 + Silent SNP C C T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr1:113240920C>T ENST00000369644.1 + 17 3189 c.2160C>T c.(2158-2160)atC>atT p.I720I MOV10_ENST00000369645.1_Silent_p.I776I|MOV10_ENST00000357443.2_Silent_p.I776I|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000413052.2_Silent_p.I776I Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog (mouse) 776 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3) 38 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) GCTTTCCCATCATCTTTCACG 0.557000 7 28 0 0 0.248553 0 0 PCNXL3 399909 broad.mit.edu 37 11 65393198 65393198 + Missense_Mutation SNP G G A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr11:65393198G>A ENST00000355703.3 + 19 3750 c.3211G>A c.(3211-3213)Gtc>Atc p.V1071I NM_032223.2 NP_115599.2 Q9H6A9 PCX3_HUMAN pecanex-like 3 (Drosophila) 1071 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1) 13 CGCCAGCACCGTCTTTATTGC 0.627000 OREG0021084 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 14 0 0 0.307466 0 0 ZNF510 22869 broad.mit.edu 37 9 99522150 99522150 + Nonsense_Mutation SNP G G C TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr9:99522150G>C ENST00000375231.1 - 6 1612 c.962C>G c.(961-963)tCa>tGa p.S321* ZNF510_ENST00000223428.4_Nonsense_Mutation_p.S321* Q9Y2H8 ZN510_HUMAN zinc finger protein 510 321 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1) 21 Acute lymphoblastic leukemia(62;0.0527) CTCCACAGTTGACTTCTCAAA 0.358000 29 67 0 0 0.717897 0 0 NBPF10 100132406 broad.mit.edu 37 1 145299900 145299900 + Missense_Mutation SNP C C G TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr1:145299900C>G ENST00000342960.5 + 6 984 c.949C>G c.(949-951)Caa>Gaa p.Q317E RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Missense_Mutation_p.Q46E NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 317 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TTTTCTAACTCAACTGTCCGG 0.428000 22 134 0 0 0.769981 0 0 LPHN3 23284 broad.mit.edu 37 4 62598970 62598970 + Missense_Mutation SNP A A T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr4:62598970A>T ENST00000512091.1 + 7 1640 c.893A>T c.(892-894)gAa>gTa p.E298V LPHN3_ENST00000504896.1_Missense_Mutation_p.E298V|LPHN3_ENST00000514157.1_Missense_Mutation_p.E298V|LPHN3_ENST00000507625.1_Missense_Mutation_p.E366V|LPHN3_ENST00000506720.1_Missense_Mutation_p.E366V|LPHN3_ENST00000506700.1_Missense_Mutation_p.E298V|LPHN3_ENST00000545650.1_Missense_Mutation_p.E298V|LPHN3_ENST00000511324.1_Missense_Mutation_p.E366V|LPHN3_ENST00000509896.1_Missense_Mutation_p.E366V|LPHN3_ENST00000514591.1_Missense_Mutation_p.E298V|LPHN3_ENST00000506746.1_Missense_Mutation_p.E366V|LPHN3_ENST00000507164.1_Missense_Mutation_p.E366V|LPHN3_ENST00000508946.1_Missense_Mutation_p.E298V|LPHN3_ENST00000514996.1_Missense_Mutation_p.E298V|LPHN3_ENST00000508693.1_Missense_Mutation_p.E366V Q9HAR2 LPHN3_HUMAN latrophilin 3 298 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 CTACGGATCGAAGGAACATGG 0.393000 8 37 0 0 0.307466 0 0 PIK3CG 5294 broad.mit.edu 37 7 106508605 106508605 + Missense_Mutation SNP C C T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr7:106508605C>T ENST00000359195.3 + 2 909 c.599C>T c.(598-600)cCg>cTg p.P200L PIK3CG_ENST00000440650.2_Missense_Mutation_p.P200L|PIK3CG_ENST00000496166.1_Missense_Mutation_p.P200L NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 200 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 GCCATGCACCCGTGGGTGACG 0.622000 15 50 0 0 0.479597 0 0 LONP1 9361 broad.mit.edu 37 19 5699115 5699115 + Silent SNP G G A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr19:5699115G>A ENST00000360614.3 - 10 1765 c.1608C>T c.(1606-1608)atC>atT p.I536I LONP1_ENST00000540670.2_Silent_p.I340I|LONP1_ENST00000590729.1_Silent_p.I406I|LONP1_ENST00000585374.1_Silent_p.I422I|LONP1_ENST00000593119.1_Silent_p.I472I NM_004793.2 NP_004784.2 P36776 LONM_HUMAN lon peptidase 1, mitochondrial 536 cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia mitochondrial nucleoid ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GGGCGCGGGCGATGGAGCGAG 0.632000 17 71 0 0 0.539581 0 0 LRP1B 53353 broad.mit.edu 37 2 141946119 141946119 + Missense_Mutation SNP C C T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr2:141946119C>T ENST00000389484.3 - 7 1855 c.884G>A c.(883-885)cGa>cAa p.R295Q NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 295 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATAGAGATTTCGAGTGAGCCA 0.408000 TSP Lung(27;0.18) 13 26 0 0 0.457914 0 0 CTDP1 9150 broad.mit.edu 37 18 77489013 77489013 + Missense_Mutation SNP G G C TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr18:77489013G>C ENST00000299543.7 + 11 2671 c.2524G>C c.(2524-2526)Gag>Cag p.E842Q CTDP1_ENST00000075430.7_Intron NM_001202504.1|NM_004715.4 NP_001189433.1|NP_004706.3 Q9Y5B0 CTDP1_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 842 positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm CTD phosphatase activity|DNA-directed RNA polymerase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1) 35 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277) CAGTATGTCTGAGACAATGCC 0.592000 4 189 0 0 0.150653 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21771560 21771560 + Missense_Mutation SNP A A G TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr14:21771560A>G ENST00000206660.6 + 5 658 c.658A>G c.(658-660)Atg>Gtg p.M220V RPGRIP1_ENST00000400017.2_Missense_Mutation_p.M220V|RPGRIP1_ENST00000557771.1_Intron|RPGRIP1_ENST00000556336.1_Intron Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator interacting protein 1 220 response to stimulus|visual perception cilium breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) TGGTCTATGCATGCCTAACAG 0.403000 9 24 0 0 0.335167 0 0 FMN2 56776 broad.mit.edu 37 1 240370958 240370958 + Missense_Mutation SNP C C G rs6143701 TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr1:240370958C>G ENST00000319653.9 + 5 3076 c.2846C>G c.(2845-2847)cCc>cGc p.P949R NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 949 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CCCCCTCTACCCGGAGCGGCA 0.697000 5 20 0 0 0.248553 0 0 ANKH 56172 broad.mit.edu 37 5 14716914 14716914 + Missense_Mutation SNP C C T rs148228793 TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr5:14716914C>T ENST00000284268.6 - 9 1372 c.1042G>A c.(1042-1044)Gtg>Atg p.V348M ANKH_ENST00000535119.1_Missense_Mutation_p.V150M NM_054027.4 NP_473368.1 Q9HCJ1 ANKH_HUMAN ANKH inorganic pyrophosphate transport regulator 348 locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity p.V348M(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 TTCTCAGACACGTTGGGTGTC 0.463000 8 23 0 0 0.278610 0 0 HRNR 388697 broad.mit.edu 37 1 152192700 152192700 + Missense_Mutation SNP C C G rs147754674 TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr1:152192700C>G ENST00000368801.2 - 3 1480 c.1405G>C c.(1405-1407)Gag>Cag p.E469Q FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 469 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAGCTAGACTCGTGGTGACCA 0.567000 42 109 0 0 0.834066 0 0 PDIK1L 149420 broad.mit.edu 37 1 26448944 26448944 + Missense_Mutation SNP A A G TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr1:26448944A>G ENST00000374271.4 + 4 1189 c.902A>G c.(901-903)aAt>aGt p.N301S PDIK1L_ENST00000374269.1_Missense_Mutation_p.N301S NM_001243532.1|NM_001243533.1|NM_152835.4 NP_001230461.1|NP_001230462.1|NP_690048.1 Q8N165 PDK1L_HUMAN PDLIM1 interacting kinase 1 like 301 Protein kinase. nucleus ATP binding|protein serine/threonine kinase activity large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 7 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649) AAATCTATGAATGGGCGAATG 0.398000 21 45 0 0 0.592651 0 0 FPGT 8790 broad.mit.edu 37 1 74671407 74671407 + Missense_Mutation SNP A A G TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr1:74671407A>G ENST00000370898.2 + 4 1713 c.1676A>G c.(1675-1677)tAt>tGt p.Y559C TNNI3K_ENST00000370891.2_Intron|TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000370894.4_3'UTR|FPGT_ENST00000524915.1_Intron|FPGT_ENST00000534056.1_Missense_Mutation_p.Y305C|FPGT-TNNI3K_ENST00000557284.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron NM_001199328.1|NM_003838.3 NP_001186257.1|NP_003829.2 fucose-1-phosphate guanylyltransferase breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 39 CTGAATAGCTATAAGTTGCTG 0.338000 17 43 0 0 0.520397 0 0 LINC00264 645528 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 3 26 0 0 0.115264 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 5 168 0 0 0.184627 0 0 GPR149 344758 broad.mit.edu 37 3 154055685 154055685 + Missense_Mutation SNP C C T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr3:154055685C>T ENST00000389740.2 - 4 2098 c.1999G>A c.(1999-2001)Ggg>Agg p.G667R NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 667 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) GCTGTTTCCCCTAGGTCACAT 0.438000 4 143 0 0 0.150653 0 0 MED14 9282 broad.mit.edu 37 X 40511065 40511065 + Missense_Mutation SNP C C T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chrX:40511065C>T ENST00000324817.1 - 31 4476 c.4358G>A c.(4357-4359)cGt>cAt p.R1453H NM_004229.3 NP_004220.2 O60244 MED14_HUMAN mediator complex subunit 14 1453 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TGTCTATGGACGCCCACCAGG 0.388000 3 3 0 0 0.115264 0 0 HMGCR 3156 broad.mit.edu 37 5 74655134 74655134 + Splice_Site SNP A A G TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr5:74655134A>G ENST00000287936.4 + 17 2453 c.2298_splice c.e17+1 p.Q766_splice HMGCR_ENST00000511206.1_Splice_Site_p.Q766_splice|HMGCR_ENST00000343975.5_Splice_Site_p.Q713_splice NM_000859.2 NP_000850.1 P04035 HMDH_HUMAN 3-hydroxy-3-methylglutaryl-CoA reductase 766 Catalytic. cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 20 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;2.24e-54) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641) GCCTGTGGACAGGTGAGCTCT 0.453000 12 33 0 0 0.387290 0 0 UBE4A 9354 broad.mit.edu 37 11 118243810 118243810 + Missense_Mutation SNP A A C rs111254610 TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr11:118243810A>C ENST00000252108.3 + 7 862 c.731A>C c.(730-732)gAt>gCt p.D244A UBE4A_ENST00000431736.2_Missense_Mutation_p.D251A NM_001204077.1|NM_004788.3 NP_001191006.1|NP_004779.2 Q14139 UBE4A_HUMAN ubiquitination factor E4A 244 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding p.D251A(1) autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 56 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) GATTTTGAAGATGTAACTGAG 0.333000 11 24 0 0 0.361761 0 0 FCRLB 127943 broad.mit.edu 37 1 161697178 161697178 + Missense_Mutation SNP C C T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr1:161697178C>T ENST00000367948.2 + 8 1222 c.1007C>T c.(1006-1008)tCc>tTc p.S336F FCRLB_ENST00000367946.3_Missense_Mutation_p.P288S|FCRLB_ENST00000336830.5_3'UTR|FCRLB_ENST00000392158.1_Missense_Mutation_p.S336F|FCRLB_ENST00000367944.3_3'UTR|FCRLB_ENST00000367945.1_Missense_Mutation_p.P281S|FCRLB_ENST00000495397.1_3'UTR Q6BAA4 FCRLB_HUMAN Fc receptor-like B 336 endoplasmic reticulum central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1) 17 all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00634) AACACCACCTCCACCGGGCTG 0.692000 16 30 0 0 0.479597 0 0 GLYAT 10249 broad.mit.edu 37 11 58478154 58478154 + Missense_Mutation SNP G G A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr11:58478154G>A ENST00000344743.3 - 5 538 c.397C>T c.(397-399)Ctc>Ttc p.L133F GLYAT_ENST00000529732.1_Missense_Mutation_p.L133F|GLYAT_ENST00000278400.3_Missense_Mutation_p.L133F NM_201648.2 NP_964011.2 Q6IB77 GLYAT_HUMAN glycine-N-acyltransferase 133 acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) GCCATATAGAGAATGCGTTGT 0.428000 32 87 0 0 0.769981 0 0 AGMO 392636 broad.mit.edu 37 7 15599868 15599868 + Missense_Mutation SNP A A T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr7:15599868A>T ENST00000342526.3 - 2 324 c.155T>A c.(154-156)cTg>cAg p.L52Q NM_001004320.1 NP_001004320.1 Q6ZNB7 ALKMO_HUMAN alkylglycerol monooxygenase 52 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2) 42 AAGTTCAAGCAGCATCAAAGA 0.408000 18 47 0 0 0.557998 0 0 IL16 3603 broad.mit.edu 37 15 81592385 81592385 + Silent SNP G G A rs142057384 TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr15:81592385G>A ENST00000394660.2 + 14 3078 c.2718G>A c.(2716-2718)tcG>tcA p.S906S IL16_ENST00000302987.4_Silent_p.S906S|IL16_ENST00000560230.1_3'UTR|IL16_ENST00000394652.2_Silent_p.S205S NM_001172128.1|NM_172217.3 NP_001165599.1|NP_757366.2 Q14005 IL16_HUMAN interleukin 16 906 S -> L (in dbSNP:rs17875513). immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1) 57 TACTGTCCTCGGGGTCCCCTG 0.647000 3 78 0 0 0.115264 0 0 CACNA1E 777 broad.mit.edu 37 1 181701838 181701838 + Silent SNP C C T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr1:181701838C>T ENST00000526775.1 + 19 2724 c.2559C>T c.(2557-2559)acC>acT p.T853T CACNA1E_ENST00000367567.4_Silent_p.T479T|CACNA1E_ENST00000367573.2_Silent_p.T872T|CACNA1E_ENST00000357570.5_Silent_p.T823T|CACNA1E_ENST00000358338.5_Silent_p.T804T|CACNA1E_ENST00000360108.3_Silent_p.T853T|CACNA1E_ENST00000367570.1_Silent_p.T872T NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 872 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 ACCAGAGGACCCCTTTGTCCC 0.672000 10 14 0 0 0.361761 0 0 POLR3C 10623 broad.mit.edu 37 1 145608112 145608113 + Frame_Shift_Ins INS - - A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr1:145608112_145608113insA ENST00000334163.3 - 4 744_745 c.584_585insT c.(583-585)tatfs p.Y195fs POLR3C_ENST00000369294.1_Frame_Shift_Ins_p.Y195fs|POLR3C_ENST00000471254.1_5'UTR NM_006468.6 NP_006459.3 Q9BUI4 RPC3_HUMAN polymerase (RNA) III (DNA directed) polypeptide C (62kD) 195 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) Epithelial(2;7.55e-13) CCTTACCTATCAAGCTGAGTTT 0.426 23 65 --- --- --- --- CR1 1378 broad.mit.edu 37 1 207741172 207741172 + Frame_Shift_Del DEL T T - TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr1:207741172delT ENST00000367049.4 + 25 3956 c.3956delT c.(3955-3957)acfs p.I1319fs CR1_ENST00000367051.1_Frame_Shift_Del_p.I869fs|CR1_ENST00000400960.2_Frame_Shift_Del_p.I869fs|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367052.1_Intron|CR1_ENST00000367053.1_Frame_Shift_Del_p.I869fs NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 869 Sushi 21. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 TTTCTAGAAATCTTTTGTCCA 0.408 18 47 --- --- --- --- COL21A1 81578 broad.mit.edu 37 6 56047356 56047357 + Frame_Shift_Del DEL AC AC - TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr6:56047356_56047357delAC ENST00000244728.5 - 2 457_458 c.60_61delGT c.(58-63)gttafs p.VL20fs COL21A1_ENST00000535941.1_Frame_Shift_Del_p.VL20fs|COL21A1_ENST00000370819.1_Frame_Shift_Del_p.VL20fs NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 20 cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) TCTTCAGCTAACACAGAATTCT 0.347 6 9 --- --- --- --- CELP 1057 broad.mit.edu 37 9 135962465 135962465 + RNA DEL T T - rs63239560 TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr9:135962465delT ENST00000411440.2 + 0 972 NR_001275.2 AGGATGCCCCTGTGCCCCTCA 0.677 2 4 --- --- --- --- OR6C65 403282 broad.mit.edu 37 12 55794772 55794773 + Frame_Shift_Ins INS - - T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr12:55794772_55794773insT ENST00000379665.2 + 1 559_560 c.460_461insT c.(460-462)tttfs p.F154fs NM_001005518.1 NP_001005518.1 A6NJZ3 O6C65_HUMAN olfactory receptor, family 6, subfamily C, member 65 154 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(3)|lung(9) 15 TTTTCTCATTATTTTTCCCCCC 0.436 11 185 --- --- --- --- TPCN1 53373 broad.mit.edu 37 12 113704096 113704098 + In_Frame_Del DEL CTG CTG - TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr12:113704096_113704098delCTG ENST00000550785.1 + 5 734_736 c.565_567delCTG c.(565-567)del p.L194del TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del|TPCN1_ENST00000335509.6_In_Frame_Del_p.L122del|TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del NM_001143819.1 NP_001137291.1 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 122 endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 GGCCACGGCCCTGCTGCTGCTGC 0.640 8 413 --- --- --- --- RP11-597A11.1 0 broad.mit.edu 37 14 20138376 20138376 + RNA DEL G G - rs57620493 TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr14:20138376delG ENST00000548261.1 + 0 391 ACAaaagaaagaaagaaagaa 0.388 4 4 --- --- --- --- MGA 23269 broad.mit.edu 37 15 42003295 42003297 + In_Frame_Del DEL CAT CAT - TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr15:42003295_42003297delCAT ENST00000219905.7 + 8 3013_3015 c.2832_2834delCAT c.(2830-2835)ggc>gg p.GI944del MGA_ENST00000389936.4_In_Frame_Del_p.GI944del|MGA_ENST00000570161.1_In_Frame_Del_p.GI944del|MGA_ENST00000566586.1_In_Frame_Del_p.GI944del|MGA_ENST00000545763.1_In_Frame_Del_p.GI944del NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 944 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) ATTCTTCAGGCATCATCTCAGAA 0.384 48 93 --- --- --- --- EMC10 284361 broad.mit.edu 37 19 50985131 50985132 + Frame_Shift_Ins INS - - G TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr19:50985131_50985132insG ENST00000376918.3 + 7 738_739 c.692_693insG c.(691-693)cggfs p.R231fs EMC10_ENST00000598585.1_Intron|CTD-2545M3.2_ENST00000598194.1_RNA|EMC10_ENST00000334976.6_Intron NM_175063.4 NP_778233.4 ER membrane protein complex subunit 10 p.A234fs*56(1) CACATCATCCTGGGGGGGGCCG 0.738 5 9 --- --- --- ---